"RAD51C-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324173	NM_058216.3(RAD51C):c.-26C>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 186825	NM_058216.3(RAD51C):c.87T>C (p.Ser29=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 187716	NM_058216.3(RAD51C):c.181_182del (p.Leu61fs)	RAD51C (L61fs)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 482168	NM_058216.3(RAD51C):c.190A>T (p.Ile64Phe)	RAD51C (I64F)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 820944	NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)	RAD51C (A76fs)	Microsatellite (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 187093	NM_058216.3(RAD51C):c.240G>A (p.Glu80=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 186362	NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn)	RAD51C (K84N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 241768	NM_058216.3(RAD51C):c.258A>T (p.Thr86=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +4 more	GConflicting classifications of pathogenicity
Select item 482162	NM_058216.3(RAD51C):c.277C>T (p.Gln93Ter)	RAD51C (Q93*)	Single nucleotide variant (nonsense +1 more)	Fanconi anemia complementation group O +2 more	GPathogenic
Select item 232859	NM_058216.3(RAD51C):c.315A>G (p.Ser105=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	RAD51C-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 183850	NM_058216.3(RAD51C):c.336G>A (p.Gly112=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +6 more	GBenign/Likely benign
Select item 496503	NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser)	RAD51C (C124S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 136158	NM_058216.3(RAD51C):c.408G>A (p.Met136Ile)	RAD51C (M136I)	Single nucleotide variant (missense variant)	RAD51C-related disorder +4 more	GUncertain significance
Select item 128205	NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)	RAD51C (Q143R)	Single nucleotide variant (missense variant)	RAD51C-related disorder +5 more	GUncertain significance
Select item 142840	NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	RAD51C (I144T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity
Select item 570140	NM_058216.3(RAD51C):c.463G>A (p.Ala155Thr)	RAD51C (A155T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 184256	NM_058216.3(RAD51C):c.513C>T (p.Asp171=)	RAD51C	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group O +4 more	GLikely benign
Select item 128207	NM_058216.3(RAD51C):c.571+4A>G	RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +7 more	GConflicting classifications of pathogenicity
Select item 128208	NM_058216.3(RAD51C):c.572-11del	RAD51C	Deletion (intron variant)	RAD51C-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 753318	NM_058216.3(RAD51C):c.681A>G (p.Pro227=)	LOC129390903, RAD51C	Single nucleotide variant (synonymous variant +1 more)	RAD51C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 232379	NM_058216.3(RAD51C):c.696A>T (p.Glu232Asp)	LOC129390903, RAD51C (E232D)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +4 more	GUncertain significance
Select item 128209	NM_058216.3(RAD51C):c.706-2A>G	RAD51C	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GPathogenic/Likely pathogenic
Select item 219586	NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)	RAD51C (R237Q)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 216808	NM_058216.3(RAD51C):c.718A>T (p.Ile240Leu)	RAD51C (I240L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 185363	NM_058216.3(RAD51C):c.744T>C (p.Phe248=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 141175	NM_058216.3(RAD51C):c.778C>T (p.Arg260Trp)	RAD51C (R260W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 184589	NM_058216.3(RAD51C):c.783A>G (p.Leu261=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 128210	NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	RAD51C (L262V)	Single nucleotide variant (missense variant +1 more)	RAD51C-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 128211	NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)	RAD51C (G264S)	Single nucleotide variant (missense variant +1 more)	RAD51C-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 482161	NM_058216.3(RAD51C):c.813C>T (p.Ser271=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +3 more	GLikely benign
Select item 142502	NM_058216.3(RAD51C):c.835G>C (p.Ala279Pro)	RAD51C (A279P)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GUncertain significance
Select item 132702	NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)	RAD51C (T287A)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +8 more	GBenign/Likely benign
Select item 186828	NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro)	RAD51C (L297P)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +5 more	GConflicting classifications of pathogenicity
Select item 482166	NM_058216.3(RAD51C):c.899C>T (p.Ala300Val)	RAD51C (A300V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 142762	NM_058216.3(RAD51C):c.904+5G>T	RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 232614	NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)	RAD51C (W305*)	Single nucleotide variant (nonsense +1 more)	RAD51C-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 186543	NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)	RAD51C (A308S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 187133	NM_058216.3(RAD51C):c.923C>G (p.Ala308Gly)	RAD51C (A308G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +4 more	GUncertain significance
Select item 2636349	NM_058216.3(RAD51C):c.1043A>G (p.Asp348Gly)	RAD51C (D348G)	Single nucleotide variant (missense variant +1 more)	RAD51C-related disorder	GUncertain significance

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Items: 39